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MMAA (基因名), Methylmalonic aciduria type A protein, mitochondrial (蛋白名), MMAA_HUMAN.
产品名称:

Human MMAA/ Methylmalonic aciduria type A protein, mitochondrial Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
序列号:
Q8IVH4
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human MMAA Protein
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Human MMAA Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS


基因位点
Cytogenetic band: 4q31.21 by HGNC 4q31.21 by Entrez Gene 4q31.21 by Ensembl
MMAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Homodimer.


功能:
Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.


亚细胞位置:
Mitochondrion


该产品尚未在任何出版物中被引用。

[1].
"Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism."

[2].
"Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements."

[3].
"Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group."

[4].
"Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria."

[5].
"High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria."

[6].
"Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation."

[7].
"Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase."

[8].
"Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria."

[9].
"Complete sequencing and characterization of 21,243 full-length human cDNAs."

[10].
"Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation."
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